cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency

Preferred Label : cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency;

MeSH note : mutation in SCO2;

MeSH synonym : cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy;

Details

Origin ID

C565784;

UMLS CUI

C1858424;

Currated CISMeF NLP mapping
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
- Fatal infantile cytochrome C oxidase deficiency (disorder) [SNOMED CT concept]
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [DO Concept]
MeSH term(s) associated for indexing
- cardiomyopathy, hypertrophic [MeSH Descriptor]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- mitochondrial encephalomyopathies [MeSH Descriptor]
Record concept(s)
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
- Mitochondrial complex iv deficiency, nuclear type 2 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Mitochondrial complex iv deficiency, nuclear type 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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